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Metadata
ID	DOID:0080328
Name	Culler-Jones syndrome
Definition	A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity. https://www.ncbi.nlm.nih.gov/pubmed/?term=29298444
Xrefs	GARD:13349 MIM:615849
Subsets	DO_rare_slim
Parent Relationships	is_a autosomal dominant disease is_a syndrome
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance